Macular dystrophy in kabuki syndrome: a new clinical feature?

TítuloMacular dystrophy in kabuki syndrome: a new clinical feature?
Tipo de PublicaciónJournal Article
Nuevas Publicaciones2011
AutoresLindfield D, Griffiths MFP, Thompson DA, Moore AT
JournalJournal of pediatric ophthalmology and strabismus
Volumen48
Paginatione40-2
Año de publicación2011
ISBN1938-2405
Resumen

Kabuki syndrome is a rare and genetically heterogenous condition that has both systemici and ophthalmic complications. Macular dystrophy has not previously been noted in conjunction with this syndrome. The authors present a 14-year-old girl with Kabuki syndrome with macular dystrophy and confirmatory electrodiagnostics.

DOI10.3928/01913913-20110712-04
Alternate JournalJ Pediatr Ophthalmol Strabismus
Citation Key939
PubMed ID21766738